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Unique Huntington's study moves forward

Doctors have completed the first step of a unique medical research study, evaluating 1,001 individuals at risk of developing Huntington's disease who do not know nor do they want to know whether they carry the genetic defect that causes the condition.

An international team led by neurologist Ira Shoulson, M.D., of the University of Rochester Medical Center is trying to identify the earliest signs of the onset of the disease. The information will help clinicians design better studies of new drugs aimed at alleviating or postponing illness. It also helps researchers understand how patients evaluate potentially life-changing knowledge now available to patients through means such as genetic testing.

Shoulson and colleagues from the Huntington Study Group reported their progress on the study known as PHAROS, or Prospective Huntington At Risk Observational Study, in the July issue of the Archives of Neurology.

While the gene that causes the disease is known and can be identified through a blood test, fewer than one in 10 adults at risk for developing the disease have chosen to be tested. People at risk but who have not taken the test have a 50/50 chance of developing the disease. This at-risk group offers physicians a unique opportunity to witness the earliest signs of the disease, before anyone knows whether a person actually has the gene for Huntington's or not.

In the PHAROS study, one of the largest Huntington's studies ever undertaken, 1,001 healthy people between the ages of 26 to 55 who had at least one parent with the disease have stepped forward to participate. Patients, doctors and nurses from 43 hospitals and medical centers around North America, including Rochester, are taking part.

At enrollment in PHAROS, participants provide a blood sample to analyze whether or not they harbor the Huntington's gene, though neither they, the researchers, nor their physicians will ever be told the results of the individu
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Contact: Tom Rickey
tom_rickey@urmc.rochester.edu
585-275-7954
University of Rochester Medical Center
8-Aug-2006


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